Variant Results

or

Results for "VWF"

Variant Events: 48

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

VWF

AU4344301

chr12:
6078696-6078696

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VWF

mAGRE1412

chr12:
6182789-6182789

G

T

exonic

Paternal

stopgain

NM_000552

c.C993A

p.C331X

40.0

8.241E-6

Cirnigliaro2023 G

VWF

2-0303-004

chr12:
6254220-6254220

A

C

intergenic

De novo

-

Yuen2017 G

VWF

1-0303-003

chr12:
6057746-6057746

C

CCAGG

downstream

De novo

-

Yuen2017 G

VWF

2-1266-003

chr12:
6170109-6170109

G

A

intronic

De novo

-

Yuen2017 G

VWF

AU3637301

chr12:
6168194-6168194

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

VWF

13775.p1

chr12:
6127879-6127879

G

A

exonic

De novo

nonsynonymous SNV

NM_000552

c.C4705T

p.R1569C

17.28

1.654E-5

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

VWF

1-0568-003

chr12:
6253946-6253946

A

G

intergenic

De novo

-

Yuen2017 G

VWF

mAGRE1064

chr12:
6219749-6219749

C

T

splicing

Maternal

splicing

12.77

-

Cirnigliaro2023 G

VWF

mAGRE1060

chr12:
6219749-6219749

C

T

splicing

Maternal

splicing

12.77

-

Cirnigliaro2023 G

VWF

iHART1064

chr12:
6219749-6219749

C

T

splicing

Maternal

splicing

12.77

-

Ruzzo2019 G

VWF

iHART1060

chr12:
6219749-6219749

C

T

splicing

Maternal

splicing

12.77

-

Ruzzo2019 G

VWF

11641.p1

chr12:
6094774-6094774

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_000552

c.G6856A

p.G2286R

14.46

8.348E-6

Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E
Zhou2022 GE

VWF

iHART1412

chr12:
6182789-6182789

G

T

exonic

Paternal

stopgain

NM_000552

c.C993A

p.C331X

40.0

8.241E-6

Ruzzo2019 G

VWF

AU017703

chr12:
6078962-6078964

GCA

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

VWF

1-0329-003

chr12:
6249240-6249240

G

C

intergenic

De novo

-

Yuen2017 G

VWF

2-1729-003

chr12:
6262289-6262289

C

T

intergenic

De novo

-

Yuen2017 G

VWF

SP0123162

chr12:
6184712-6184712

C

T

exonic

De novo

synonymous SNV

NM_000552

c.G663A

p.L221L

-

Trost2022 G

VWF

G01-GEA-37-HI

chr12:
6122757-6122757

C

T

exonic

Mosaic

nonsynonymous SNV

NM_000552

c.G5510A

p.R1837Q

15.87

4.119E-5

Lim2017 E

VWF

5-5024-003

chr12:
6195585-6195585

G

A

intronic

De novo

-

Trost2022 G

VWF

1-0354-006

chr12:
6072007-6072007

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

VWF

AU2156303

chr12:
6127111-6127111

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VWF

CC1090.202

chr12:
6080864-6080864

G

A

exonic

De novo

synonymous SNV

NM_000552

c.C7449T

p.Y2483Y

-

3.312E-5

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

VWF

SJD_3.3

chr12:
6146381-6146381

T

C

intronic

De novo

-

Trost2022 G

VWF

1-0259-003

chr12:
6245055-6245055

T

C

intergenic

De novo

-

Yuen2017 G

VWF

SP0110865

chr12:
6180436-6180436

G

A

intronic

De novo

-

0.001

Trost2022 G

VWF

14159.p1

chr12:
6127784-6127784

C

T

exonic

De novo

synonymous SNV

NM_000552

c.G4800A

p.A1600A

-

4.132E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

VWF

AU2773301

chr12:
6107263-6107263

T

C

intronic

De novo

-

Trost2022 G

VWF

1-0454-003

chr12:
6178535-6178535

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

VWF

3-0034-000

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

VWF

MSSNG00153-003

chr12:
6070114-6070114

A

G

intronic

De novo

-

Trost2022 G

VWF

JASD_Fam0076

chr12:
6121251-6121251

A

G

splicing

De novo

splicing

19.04

-

Takata2018 E

VWF

AU2000305

chr12:
6209622-6209622

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VWF

REACH000738

chr12:
6073190-6073190

G

A

intronic

De novo

-

Trost2022 G

VWF

SP0032907

chr12:
6061723-6061723

G

C

intronic

De novo

-

1.742E-5

Fu2022 E
Trost2022 G

VWF

2-1521-003

chr12:
6266047-6266047

A

G

intergenic

De novo

-

Yuen2017 G

VWF

SP0054513

chr12:
6144092-6144092

G

T

intronic

De novo

-

Fu2022 E

VWF

2-0068-003

chr12:
6201737-6201743

TGCGTGC

AGTGAGA

intronic

De novo

-

Trost2022 G

VWF

2-0135-003

chr12:
6254749-6254749

C

T

intergenic

De novo

-

Yuen2017 G

VWF

SP0103299

chr12:
6078440-6078440

C

T

exonic

De novo

nonsynonymous SNV

NM_000552

c.G7666A

p.V2556I

6.425

8.341E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

VWF

3-0258-000

chr12:
6198291-6198291

C

T

intronic

De novo

-

Trost2022 G

VWF

2-0068-003

chr12:
6201733-6201733

T

A

intronic

De novo

-

Trost2022 G

VWF

C238003

chr12:
6128628-6128628

A

C

exonic

De novo

nonsynonymous SNV

NM_000552

c.T3956G

p.V1319G

20.3

-

Fu2022 E

VWF

CC1090_202

chr12:
6080864-6080864

G

A

exonic

De novo

synonymous SNV

NM_000552

c.C7449T

p.Y2483Y

-

3.312E-5

Fu2022 E

VWF

9011

chr12:
6103760-6103760

C

G

exonic

De novo

nonsynonymous SNV

NM_000552

c.G6077C

p.G2026A

13.43

-

Fu2022 E

VWF

SSC10389

chr12:
6127784-6127784

C

T

exonic

De novo

synonymous SNV

NM_000552

c.G4800A

p.A1600A

-

4.132E-5

Fu2022 E
Trost2022 G

VWF

1-0565-003

chr12:
6254744-6254744

G

A

intergenic

De novo

-

Yuen2017 G

VWF

04HI2741A

chr12:
6078535-6078535

G

A

exonic

De novo

nonsynonymous SNV

NM_000552

c.C7571T

p.P2524L

4.147

5.801E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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